A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279954



Internal ID22126603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144221656..144238802hg38UCSC Ensembl
Outerchr8:145276559..145293705hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381187
hg191187
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240882
Supporting Variants
SamplesHG00512
Known GenesMROH1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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